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内部出版物
Wiley电子期刊(10)
SpringerLink电子期刊(252)
NATURE电子期刊(5)
Elsevier电子期刊(195)
在“
Wiley电子期刊
”中,
命中:
10
条,耗时:小于0.01 秒
在所有数据库中总计命中:
462
条
1.
Comparative genomic hybridization in detection of DNA changes in canine lymphomas
作者:
Monika Drá
;
žovská
;
Katarí
;
na Šiviková
;
Já
;
n Dianovský
;
and Miroslav Horňá
k
刊名:Animal Science Journal
出版年:2017
2.
NSD1
duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features
作者:
J. Sachwitz
;
R. Meyer
;
G. Fekete
;
S. Spranger
;
A. Matulevičienė
;
V. Kučinskas
;
A. Bach
;
A. Luczay
;
N.O. Brü
;
chle
;
K. Eggermann
;
K. Zerres
;
M. Elbracht and T. Eggermann
刊名:Clinical Genetics
出版年:2017
3.
Reciprocal white matter alterations due to 16p11.2
chromosomal
deletions versus
duplications
作者:
Yi Shin Chang
;
Julia P. Owen
;
Nicholas J. Pojman
;
Tony Thieu
;
Polina Bukshpun
;
Mari L.J. Wakahiro
;
Elysa J. Marco
;
Jeffrey I. Berman
;
John E. Spiro
;
Wendy K. Chung
;
Randy L. Buckner
;
Timothy P.L. Roberts
;
Srikantan S. Nagarajan
;
Elliott H. Sherr and Pratik Mukherjee
刊名:Human Brain Mapping
出版年:2016
4.
Mutually exclusive BCOR internal tandem
duplications
and YWHAE-NUTM2 fusions in clear cell sarcoma of kidney: not the full story
作者:
Colin Kenny
;
Sabrina Bausenwein
;
Antonio Lazaro
;
Rhoikos Furtwngler
;
Saskia LM Gooskens
;
Marry van den Heuvel Eibrink
;
Christian Vokuhl
;
Ivo Leuschner
;
Norbert Graf
;
Manfred Gessler and Maureen J O'
;
Sullivan
关键词:
clear cell sarcoma of kidney (CCSK)
;
BCOR
;
PUFD domain
;
variant PRC1
;
duplication
;
chromosomal
translocation
;
t(10
;
17)(q22
;
p13)
;
fusion gene
;
YWHAE&ndash
;
NUTM2
刊名:The Journal of Pathology
出版年:2016
5.
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33
duplications
作者:
Mona K. Mekkawy
;
Inas M. Mazen
;
Alaa K. Kamel
;
Inga Vater and Maha S. Zaki
关键词:
Down syndrome critical region
;
12p duplication syndrome
;
subtelomeric rearrangements
;
microarray
刊名:American Journal of Medical Genetics Part A
出版年:2016
6.
4p16.3 microdeletions and micro
duplications
detected by
chromosomal
microarray analysis: New insights into mechanisms and critical regions
作者:
Weimin Bi
;
Sau-Wai Cheung
;
Amy M. Breman and Carlos A. Bacino
刊名:American Journal of Medical Genetics Part A
出版年:2016
7.
Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental
duplications
作者:
H. Tong
;
Y. Jin
;
Y. Xu
;
B. Zou
;
H. Ye
;
H. Wu
;
S. Kumar
;
J.L. Pitman
;
G. Zhou and Q. Song
刊名:Clinical Genetics
出版年:2016
8.
The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype
作者:
M. S. Rocca
;
V. Pecile
;
L. Cleva
;
E. Speltra
;
R. Selice
;
A. Di Mambro
;
C. Foresta and A. Ferlin
关键词:
copy number variation
;
Klinefelter's syndrome
;
microarrays
刊名:Andrology
出版年:2016
9.
17q12 deletion and duplication syndrome in Denmark—A clinical cohort of 38 patients and review of the literature
作者:
Maria Rasmussen
;
Else Marie Vestergaard
;
Jesper Graakjaer
;
Yanko Petkov
;
Iben Bache
;
Christina Fagerberg
;
Maria Kibæ
k ;
Dea Svaneby
;
Olav Bjø
;
rn Petersen
;
Charlotte Brasch-Andersen and Lone Sunde
刊名:American Journal of Medical Genetics Part A
出版年:2016
10.
Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications
作者:
V. Oikonomakis
;
K. Kosma
;
A. Mitrakos
;
C. Sofocleous
;
P. Pervanidou
;
A. Syrmou
;
A. Pampanos
;
S. Psoni
;
H. Fryssira
;
E. Kanavakis
;
S. Kitsiou-Tzeli and M. Tzetis
刊名:Clinical Genetics
出版年:2016
1
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